A52G (p.Ala52Gly) variant of TECTA (Alpha-tectorin)
A52G (p.Ala52Gly) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A52G (p.Ala52Gly) variant details
- p.Ala52Gly
- gnomAD 11-121105921-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.25
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available